Canonical Allele Identifier: CA5579845

Gene: CDHR1

Linked Data

• ClinVar Variation Id: 301235
• ClinVar RCV Id: RCV000382785 ; RCV000415935 ; RCV000660387 ; RCV002522171
• dbSNP Id: rs140621272
• ExAC: 10:85968099 G / A
• gnomAD v2: 10-85968099-G-A
• gnomAD v3: 10-84208343-G-A
• gnomAD v4: 10-84208343-G-A
• MyVariant Identifiers: chr10:g.85968099G>A (hg19) ; chr10:g.84208343G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84208343G>A , CM000672.2:g.84208343G>A	GRCh38
NC_000010.10:g.85968099G>A , CM000672.1:g.85968099G>A	GRCh37
NC_000010.9:g.85958079G>A	NCBI36
NG_028034.1:g.18688G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623527.4:c.1133G>A MANE Select	ENSP00000485478.1:p.Arg378Gln
ENST00000332904.7:c.1133G>A	ENSP00000331063.3:p.Arg378Gln
ENST00000372117.6:c.513G>A
ENST00000623527.3:c.1133G>A	ENSP00000485478.1:p.Arg378Gln
ENST00000624091.1:c.419G>A
NM_001171971.2:c.1133G>A	NP_001165442.1:p.Arg378Gln
NM_033100.3:c.1133G>A	NP_149091.1:p.Arg378Gln
XM_011540337.1:c.1307G>A	XP_011538639.1:p.Arg436Gln
XM_011540338.1:c.1307G>A	XP_011538640.1:p.Arg436Gln
XM_011540339.1:c.686G>A	XP_011538641.1:p.Arg229Gln
XM_011540340.1:c.1307G>A	XP_011538642.1:p.Arg436Gln
XM_011540340.3:c.1307G>A	XP_011538642.1:p.Arg436Gln
NM_033100.4:c.1133G>A MANE Select	NP_149091.1:p.Arg378Gln
NM_001171971.3:c.1133G>A	NP_001165442.1:p.Arg378Gln